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  • Title: [Hermaphroditism pathology].
    Author: Jaubert F, Nihoul-Fékété C, Lortat-Jacob S, Josso N, Fellous M.
    Journal: Ann Pathol; 2004 Dec; 24(6):499-509. PubMed ID: 15785398.
    Abstract:
    Hermaphroditism is a general term referring to all discrepancies between phenotype and genotype of sex development. It must be preferred to sexual ambiguity which refers mainly to external genitalia anomalies. Hermaphroditism is studied on an historical and pathogenetical perspective. Short embryological summaries are integrated. The defects of sexual differentiation due to hormone deficiency are first studied: androgen insensitivity, steroid 5 alpha-reductase 2 deficiency, defects of testosterone synthesis, persistant mullerian ducts syndrome. Sexual determinism deficiencies are then presented: Turner syndrome, XX males, pure gonadal dysgenesis, true hermaphroditism, mixed gonadal dysgenesis, Drash and Frasier syndrome. Tumors of dysgenetic gonads followed. Mixed tumors developed in dysgenetic gonads are gonadoblastoma and dysgerminoma. Sex cord tumors are androgen insensitivity associated tumors, Leydig cells tumors and adrenal cell inclusion tumors. Sex reversion genes open new perspectives.
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